Canonical Allele Identifier: CA145844
Gene: GUCY2D HGNC NCBI
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003108T>C , CM000679.2:g.8003108T>C GRCh38
NC_000017.10:g.7906426T>C , CM000679.1:g.7906426T>C GRCh37
NC_000017.9:g.7847151T>C NCBI36
NG_009092.1:g.5439T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.61T>C MANE Select ENSP00000254854.4:p.Trp21Arg
ENST00000254854.4:c.61T>C ENSP00000254854.4:p.Trp21Arg
NM_000180.3:c.61T>C NP_000171.1:p.Trp21Arg
XM_011523816.1:c.61T>C XP_011522118.1:p.Trp21Arg
NM_000180.4:c.61T>C MANE Select NP_000171.1:p.Trp21Arg